title: Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
abstract: Limb-girdle muscular dystrophy represents a clinically and genetically heterogeneous group of myopathies. Limb-girdle muscular dystrophy Type 2A, which is transmitted in an autosomal-recessive pattern, is caused by mutations in the calpain-3 (CAPN3) gene. A number of mutations have been reported in patients from throughout the world but not in the Asian-Indian population. We describe a genotype/phenotype analysis of an Asian-Indian patient with a history, neurologic examination, and investigations consistent with muscular dystrophy. Genetic analysis of this patient showed a homozygous G2338C transversion resulting in an amino acid change from aspartic acid 780 histidine in the CAPN3 gene confirming Limb-girdle muscular dystrophy Type 2A. Subsequent testing of the patient's family revealed that his parents and sister were heterozygous unaffected carriers. The G2338C transversion was detected as a compound heterozygous mutation in one patient in Germany. We report a homozygous case and expand the clinical spectrum of limb-girdle muscular dystrophy Type 2A to include Asian-Indians.
authors.affiliation: New Jersey Neuroscience Institute, Edison, NJ 08820, USA.
authors.forename: Leema Reddy
authors.initials: LR
authors.lastname: Peddareddygari
authors.forename: Victoria
authors.initials: V
authors.lastname: Surgan
authors.forename: Raji P
authors.initials: RP
authors.lastname: Grewal
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002154:Calpain / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain